DIATETISCHE THERAPIE DER ADRENOLEUKODYSTROPHIE. KONZEPTE UND ERSTE ERGEBNISSE EINER KLINISCHEN LANGZEITSTUDIE

Adrenoleukodystrophy (ALD) is a X-linked recessive disorder of peroxisomal metabolism with several distinct clinical manifestations. The childhood form is characterized by extensive inflammatory demyelination in the central nervous system and/or adrenal insufficiency. Patients with the later onset form (adrenomyeloneuropathy) typically develop a slowly progressive peripheral neuropathy and/or adrenal insufficiency in adulthood. As a consequence of the underlying biochemical defect in peroxisomal β-oxidation, very long chain fatty acids (VLCFA) accumulate in the plasma of patients, asymptomatic carriers, and heterozygotes. The combination of a diet low in VLCFA with the oral application of GTE/GTO-oil (glycerotrioleate and -trierucate, lorenzo's oil) decreases or even normalizes plasma VLCFA levels in greater than 90% of patients. One goal of dietary therapy in ALD is to assess if diet treatment can prevent, postpone or lessen subsequent neurological disability in currently asymptomatic patients. Preliminary results indicate that after at least 12 months of diet about 60% of our patients showed no changes in their clinical and neuroradiological status. This group remained stable over a total cumulative period of 763 months. 14 patients had signs of at least mild progression on neurological examination and/or neuroimaging studies. The disease progressed significantly in only 6 patients (17%).